{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T20:01:00Z","timestamp":1791489660041,"version":"4.3.4"},"reference-count":28,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T00:00:00Z","timestamp":1735862400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ultragenyx"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objectives: X-linked hypophosphataemic rickets (XLH) represents the most frequent type of rickets from genetic origin, it is caused by mutations on the PHEX gene. The main clinical manifestations are short stature and bone deformities. Phenotype variation is observed at the intrafamily and interfamily level. The bases for this variation are not fully understood. The aim of this study was to investigate if there is a phenotype\u2013genotype correlation in a cohort of patients with confirmed diagnosis of XLH. Methods: We recruited a total of 130 patients of Mexican Mestizo origin with confirmed molecular diagnosis of XLH; this is one of the largest cohorts reported. Results: Radiographies for calculating the rickets severity score (RSS) were available from 50 patients. A total of 56 different pathogenic variants were found among the study population; from them, 31 variants have not been previously reported. We compared the RSS values between individuals considering clinical and biochemical characteristics such as age, height, sex, phosphorus, and alkaline phosphatase in serum; no significant differences were observed. Then, we compared the RSS considering if the variant was intronic or exonic and considering the presence of a truncated protein or not. None of the two comparisons showed significant differences. Conclusions: We did not find a genotype\u2013phenotype correlation in the study population. Despite the knowledge regarding the genetic cause of XLH, the mechanisms driving the intrafamily and interfamily variability remain elusive. More analyses looking for the genotype\u2013phenotype correlation are necessary in other populations, especially considering the discovery of new mutations in patients from different origin.<\/jats:p>","DOI":"10.3390\/diagnostics15010091","type":"journal-article","created":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T07:10:17Z","timestamp":1735888217000},"page":"91","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype\u2013Genotype Correlation"],"prefix":"10.3390","volume":"15","author":[{"given":"Marco A.","family":"Olivas-Valdez","sequence":"first","affiliation":[{"name":"Cl\u00ednica Shriners Tijuana, Av. Paseo de Los H\u00e9roes 10999, Zona R\u00edo, Zona Urbana Rio Tijuana, Tijuana 22010, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armando","family":"Blanco-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Hospital Shriners para Ni\u00f1os-M\u00e9xico, Av. del Im\u00e1n #257, Pedregal de Sta. \u00darsula, Coyoac\u00e1n, Ciudad de M\u00e9xico 04600, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Vel\u00e1zquez-Arestegui","sequence":"additional","affiliation":[{"name":"Hospital Shriners para Ni\u00f1os-M\u00e9xico, Av. del Im\u00e1n #257, Pedregal de Sta. \u00darsula, Coyoac\u00e1n, Ciudad de M\u00e9xico 04600, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresita","family":"Vera-Zazueta","sequence":"additional","affiliation":[{"name":"Hospital \u00c1ngeles Tijuana, Av. Paseo de Los H\u00e9roes 10999, Zona R\u00edo, Zona Urbana Rio Tijuana, Tijuana 22010, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1489-4952","authenticated-orcid":false,"given":"Douglas","family":"Colmenares-Bonilla","sequence":"additional","affiliation":[{"name":"Servicio de Ortopedia Pedi\u00e1trica, Hospital Regional de Alta Especialidad del Baj\u00edo, Blvd. Milenio 130, Col San Carlos la Roncha, Le\u00f3n 37544, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4946-1467","authenticated-orcid":false,"given":"Lilian","family":"Reyes-Morales","sequence":"additional","affiliation":[{"name":"Departamento de Nefrolog\u00eda, Instituto Nacional de Pediatr\u00eda, Av. Insurgentes Sur 3700 Letra C, Insurgentes Cuicuilco, Ciudad de M\u00e9xico 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A.","family":"Blanco-Uriarte","sequence":"additional","affiliation":[{"name":"Hospital Shriners para Ni\u00f1os-M\u00e9xico, Av. del Im\u00e1n #257, Pedregal de Sta. \u00darsula, Coyoac\u00e1n, Ciudad de M\u00e9xico 04600, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucero","family":"Monterde-Cruz","sequence":"additional","affiliation":[{"name":"Star Medica-Hospital Infantil Privado, Nueva York 15, Col. N\u00e1poles, Ciudad de M\u00e9xico 03810, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2506-8784","authenticated-orcid":false,"given":"Alberto","family":"Hidalgo-Bravo","sequence":"additional","affiliation":[{"name":"Departamento de Medicina Gen\u00f3mica, Instituto Nacional de Rehabilitaci\u00f3n, Calzada M\u00e9xico-Xochimilco 289, Col. Arenal de Guadalupe, Ciudad de M\u00e9xico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1016\/j.ekir.2020.03.025","article-title":"An Overview of Rickets in Children","volume":"5","author":"Chanchlani","year":"2020","journal-title":"Kidney Int. Rep."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/jcb.22661","article-title":"The biology and pathology of vitamin D control in bone","volume":"111","author":"Bell","year":"2010","journal-title":"J. Cell. 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